Canonical Allele Identifier: CA593495487

Gene: PCDH15

Linked Data

• dbSNP Id: rs1442880314
• gnomAD v2: 10-55566006-A-AATC
• gnomAD v3: 10-53806246-A-AATC
• gnomAD v4: 10-53806246-A-AATC
• MyVariant Identifiers: chr10:g.55566006_55566007insATC (hg19) ; chr10:g.53806246_53806247insATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806247_53806249dup , CM000672.2:g.53806247_53806249dup	GRCh38
NC_000010.10:g.55566007_55566009dup , CM000672.1:g.55566007_55566009dup	GRCh37
NC_000010.9:g.55236013_55236015dup	NCBI36
NG_009191.2:g.1000043_1000045dup
NG_009191.3:g.1827934_1827936dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*330_*332dup MANE Select	ENSP00000495195.1:n.*330_*332dup
ENST00000373965.6:c.*330_*332dup	ENSP00000363076.3:n.*330_*332dup
ENST00000414778.5:c.*330_*332dup	ENSP00000410304.2:n.*330_*332dup
ENST00000614895.4:c.*330_*332dup	ENSP00000478512.1:n.*330_*332dup
ENST00000616114.4:c.*330_*332dup	ENSP00000483745.1:n.*330_*332dup
NM_001142771.1:c.*330_*332dup	NP_001136243.1:n.*330_*332dup
NM_001142772.1:c.*330_*332dup	NP_001136244.1:n.*330_*332dup
NM_001354420.1:c.*330_*332dup	NP_001341349.1:n.*330_*332dup
NM_001354429.1:c.*330_*332dup	NP_001341358.1:n.*330_*332dup
XR_001747192.2:n.11845_11847dup
XR_001747193.2:n.11836_11838dup
NM_001142771.2:c.*330_*332dup	NP_001136243.1:n.*330_*332dup
NM_001142772.2:c.*330_*332dup	NP_001136244.1:n.*330_*332dup
NM_001354420.2:c.*330_*332dup	NP_001341349.1:n.*330_*332dup
NM_001354429.2:c.*330_*332dup	NP_001341358.1:n.*330_*332dup
NM_001384140.1:c.*330_*332dup MANE Select	NP_001371069.1:n.*330_*332dup